DOI: https://doi.org/10.36347/sjmcr.2025.v13i09.046

Pages: 2134-2137

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder frequently associated with skeletal abnormalities and cranio-orbital dysplasias. Orbital involvement is rare but may lead to cosmetic, neurological, and functional complications. We report an unusual case of a right palpebral hemangioma overlying aplasia of the greater wing of the sphenoid, in the context of NF1. A 17-year-old male with a history of NF1 was referred to radiology for evaluation of a stable right palpebral mass present since childhood. Clinical examination revealed a painless swelling, with no visual deficit or compressive signs. Facial CT scan demonstrated a well-defined mass in the right lateral can thus, measuring 46 × 16 mm, with homogeneous enhancement, consistent with a hemangioma. Imaging also revealed complete aplasia of the right greater wing of the sphenoid, meningeal herniation into the orbit, displacement of the lateral rectus muscle and optic nerve, and orbito-zygomatic bone dysmorphia. This constellation falls within the spectrum of NF1 orbital anomalies, in which sphenoidal aplasia, though rare, is highly suggestive. The coexistence of a benign vascular tumor such as a hemangioma, although nonspecific, raises the question of abnormal vascularization in NF1-affected tissues. This case highlights an atypical orbital presentation of NF1. Imaging plays a crucial role in establishing the diagnosis, guiding management, and anticipating potential complications.